Canonical Allele Identifier: CA5374677

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137762820A>C , CM000671.2:g.137762820A>C	GRCh38
NC_000009.11:g.140657272A>C , CM000671.1:g.140657272A>C	GRCh37
NC_000009.10:g.139777093A>C	NCBI36
NG_011776.1:g.148829A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.1647A>C MANE Select	NP_079033.4:p.Glu549Asp
ENST00000460843.6:c.1647A>C MANE Select	ENSP00000417980.1:p.Glu549Asp
NM_001145527.1:c.1647A>C	NP_001138999.1:p.Glu549Asp
NM_001145527.2:c.1647A>C	NP_001138999.1:p.Glu549Asp
NM_001354259.1:c.1554A>C	NP_001341188.1:p.Glu518Asp
NM_001354259.2:c.1554A>C	NP_001341188.1:p.Glu518Asp
NM_001354263.1:c.1626A>C	NP_001341192.1:p.Glu542Asp
NM_001354263.2:c.1626A>C	NP_001341192.1:p.Glu542Asp
NM_001354611.1:c.1647A>C	NP_001341540.1:p.Glu549Asp
NM_001354611.2:c.1647A>C	NP_001341540.1:p.Glu549Asp
NM_001354612.1:c.1554A>C	NP_001341541.1:p.Glu518Asp
NM_001354612.2:c.1554A>C	NP_001341541.1:p.Glu518Asp
NM_024757.4:c.1647A>C	NP_079033.4:p.Glu549Asp
ENST00000371394.6:c.*1382A>C	ENSP00000485945.1:n.*1382A>C
ENST00000460843.5:c.1647A>C	ENSP00000417980.1:p.Glu549Asp
ENST00000462484.5:c.1647A>C	ENSP00000417328.1:p.Glu549Asp
ENST00000462942.3:c.504A>C	ENSP00000436107.1:p.Glu168Asp
ENST00000465566.2:c.339A>C	ENSP00000486261.1:p.Glu113Asp
ENST00000629335.2:c.1647A>C	ENSP00000490056.1:p.Glu549Asp
ENST00000636027.1:c.1533A>C	ENSP00000489961.1:p.Glu511Asp
ENST00000637161.1:c.1554A>C	ENSP00000490328.1:p.Glu518Asp
ENST00000637261.1:c.1687A>C	ENSP00000490815.1:n.1687A>C
ENST00000637977.1:c.1592A>C
ENST00000638071.1:c.1274A>C
ENST00000640639.1:c.816A>C	ENSP00000491823.1:p.Glu272Asp
XM_005266105.3:c.1638A>C	XP_005266162.1:p.Glu546Asp
XM_005266105.5:c.1638A>C	XP_005266162.1:p.Glu546Asp
XM_005266110.1:c.1554A>C	XP_005266167.1:p.Glu518Asp
XM_006717288.2:c.1629A>C	XP_006717351.1:p.Glu543Asp
XM_011519021.1:c.1656A>C	XP_011517323.1:p.Glu552Asp
XM_011519021.3:c.1656A>C	XP_011517323.1:p.Glu552Asp
XM_011519022.1:c.1653A>C	XP_011517324.1:p.Glu551Asp
XM_011519022.3:c.1653A>C	XP_011517324.1:p.Glu551Asp
XM_011519023.1:c.1635A>C	XP_011517325.1:p.Glu545Asp
XM_011519023.3:c.1635A>C	XP_011517325.1:p.Glu545Asp
XM_011519024.1:c.1578A>C	XP_011517326.1:p.Glu526Asp
XM_011519025.1:c.1554A>C	XP_011517327.1:p.Glu518Asp
XM_011519026.1:c.1656A>C	XP_011517328.1:p.Glu552Asp
XM_011519027.1:c.1656A>C	XP_011517329.1:p.Glu552Asp
XM_011519028.1:c.1656A>C	XP_011517330.1:p.Glu552Asp
XM_011519029.1:c.78A>C	XP_011517331.1:p.Glu26Asp
XM_011519029.3:c.78A>C	XP_011517331.1:p.Glu26Asp
XM_011519033.1:c.1635A>C	XP_011517335.1:p.Glu545Asp
XM_017015134.1:c.1632A>C	XP_016870623.1:p.Glu544Asp
XM_017015136.2:c.1548A>C	XP_016870625.1:p.Glu516Asp
XM_017015137.1:c.1533A>C	XP_016870626.1:p.Glu511Asp
XM_017015138.1:c.1533A>C	XP_016870627.1:p.Glu511Asp
XM_024447674.1:c.1476A>C	XP_024303442.1:p.Glu492Asp
XM_024447675.1:c.1554A>C	XP_024303443.1:p.Glu518Asp
XM_024447676.1:c.771A>C	XP_024303444.1:p.Glu257Asp
XM_024447677.1:c.771A>C	XP_024303445.1:p.Glu257Asp
XM_024447678.1:c.1554A>C	XP_024303446.1:p.Glu518Asp
XM_024447679.1:c.1554A>C	XP_024303447.1:p.Glu518Asp
XM_024447680.1:c.1533A>C	XP_024303448.1:p.Glu511Asp